Willers I - Search Results

1

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

Willers I, Bolz H, Wehnert M, Gal A. Willers I, et al. J Inherit Metab Dis. 1999 Oct;22(7):845-6. doi: 10.1023/a:1005522527689. J Inherit Metab Dis. 1999. PMID: 10518289 No abstract available.

2

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M. Whybra C, et al. Among authors: willers i. J Inherit Metab Dis. 2001 Dec;24(7):715-24. doi: 10.1023/a:1012993305223. J Inherit Metab Dis. 2001. PMID: 11804208

3

Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level.

Singh S, Willers I, Held K, Goedde W. Singh S, et al. Among authors: willers i. Adv Exp Med Biol. 1989;253A:145-50. doi: 10.1007/978-1-4684-5673-8_23. Adv Exp Med Biol. 1989. PMID: 2624184 No abstract available.

4

Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome.

Willers I. Willers I. Prenat Diagn. 2004 Sep;24(9):737-40. doi: 10.1002/pd.959. Prenat Diagn. 2004. PMID: 15386453

5

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, Gal A, Beck M. Ries M, et al. Among authors: willers i. Eur J Pediatr. 2003 Nov;162(11):767-72. doi: 10.1007/s00431-003-1299-3. Epub 2003 Sep 20. Eur J Pediatr. 2003. PMID: 14505049

6

Analysis of inborn errors of metabolism and other genetic defects in human fibroblasts using two-dimensional polypeptide mapping.

Singh S, Willers I, Goedde HW, Klose J. Singh S, et al. Among authors: willers i. J Inherit Metab Dis. 1981;4(2):97-8. doi: 10.1007/BF02263609. J Inherit Metab Dis. 1981. PMID: 6790866

7

A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome.

Singh S, Willers I, Goedde HW. Singh S, et al. Among authors: willers i. Clin Genet. 1976 Jul;10(1):12-5. doi: 10.1111/j.1399-0004.1976.tb00002.x. Clin Genet. 1976. PMID: 949859

8

Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media.

Willers I, Singh S, Goedde HW. Willers I, et al. Enzyme. 1984;32(4):241-7. doi: 10.1159/000469485. Enzyme. 1984. PMID: 6526001

9

High HPRT activity in fibroblasts from patients with Lesch-Nyhan syndrome due to bacterial "L-form" contamination.

Willers I, Singh S, Held KR, Goedde HW. Willers I, et al. Adv Exp Med Biol. 1980;122A:327-31. doi: 10.1007/978-1-4615-9140-5_53. Adv Exp Med Biol. 1980. PMID: 7424651 No abstract available.

10

A case of Lesch Nyhan syndrome with delayed onset of self-mutilation: search for abnormal biochemical, immunological and cell growth characteristic in fibroblasts and neurotransmitters in urine.

Singh S, Willers I, Ullrich K, Gustmann H, Niederwieser A, Goedde HW. Singh S, et al. Among authors: willers i. Adv Exp Med Biol. 1986;195 Pt A:205-10. doi: 10.1007/978-1-4684-5104-7_32. Adv Exp Med Biol. 1986. PMID: 3728153 No abstract available.

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